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cystathioninuria是什么意思，cystathioninuria翻译
Cystathioninuria is a genetic disorder characterized by the presence of too much cystathionine in the urine. Cystathionine is a chemical that is normally produced in the body and is involved in the metabolism of proteins. In individuals with cystathioninuria, there is a mutation in the gene that编码s the enzyme responsible for breaking down cystathionine, leading to its accumulation in the urine.
The symptoms of cystathioninuria can vary widely, depending on the severity of the mutation and the individual's age at the time of onset. Some common symptoms include fatigue, weakness, numbness and tingling in the hands and feet, and difficulty breathing. In severe cases, cystathioninuria can lead to life